Canonical Allele Identifier: CA319968

Gene: ELN

Linked Data

• ClinVar Variation Id: 213185
• ClinVar RCV Id: RCV000195606 ; RCV000627831
• dbSNP Id: rs863223518
• MyVariant Identifiers: chr7:g.73442519T>C (hg19) ; chr7:g.74028189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74028189T>C , CM000669.2:g.74028189T>C	GRCh38
NC_000007.13:g.73442519T>C , CM000669.1:g.73442519T>C	GRCh37
NC_000007.12:g.73080455T>C	NCBI36
NG_009261.1:g.5093T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2T>C	ENSP00000510104.1:p.Met1Thr
ENST00000252034.12:c.2T>C MANE Select	ENSP00000252034.7:p.Met1Thr
ENST00000252034.11:c.2T>C	ENSP00000252034.7:p.Met1Thr
ENST00000320399.10:c.2T>C	ENSP00000313565.6:p.Met1Thr
ENST00000320492.11:c.2T>C	ENSP00000315607.7:p.Met1Thr
ENST00000357036.9:c.2T>C	ENSP00000349540.5:p.Met1Thr
ENST00000358929.8:c.2T>C	ENSP00000351807.5:p.Met1Thr
ENST00000380553.8:c.2T>C	ENSP00000369926.4:p.Met1Thr
ENST00000380562.8:c.2T>C	ENSP00000369936.4:p.Met1Thr
ENST00000380575.8:c.2T>C	ENSP00000369949.4:p.Met1Thr
ENST00000380576.9:c.2T>C	ENSP00000369950.5:p.Met1Thr
ENST00000380584.8:c.2T>C	ENSP00000369958.4:p.Met1Thr
ENST00000414324.5:c.2T>C	ENSP00000392575.1:p.Met1Thr
ENST00000416107.5:c.2T>C	ENSP00000404138.1:p.Met1Thr
ENST00000417091.5:c.2T>C	ENSP00000411092.1:p.Met1Thr
ENST00000428787.5:c.2T>C	ENSP00000399499.1:p.Met1Thr
ENST00000429192.5:c.2T>C	ENSP00000391129.1:p.Met1Thr
ENST00000431562.5:c.2T>C	ENSP00000394549.1:p.Met1Thr
ENST00000438880.5:c.2T>C	ENSP00000389206.1:p.Met1Thr
ENST00000438906.5:c.2T>C	ENSP00000406949.1:p.Met1Thr
ENST00000442310.5:c.2T>C	ENSP00000403961.1:p.Met1Thr
ENST00000445912.5:c.2T>C	ENSP00000389857.1:p.Met1Thr
ENST00000458204.5:c.2T>C	ENSP00000403162.1:p.Met1Thr
ENST00000462506.5:n.17T>C
ENST00000468517.5:n.64T>C
ENST00000473323.1:n.14T>C
ENST00000479432.5:n.17T>C
ENST00000480728.5:n.46T>C
ENST00000492003.5:n.66T>C
ENST00000494160.5:n.76T>C
ENST00000621115.4:c.2T>C	ENSP00000480955.1:p.Met1Thr
NM_000501.3:c.2T>C	NP_000492.2:p.Met1Thr
NM_001081752.2:c.2T>C	NP_001075221.1:p.Met1Thr
NM_001081753.2:c.2T>C	NP_001075222.1:p.Met1Thr
NM_001081754.2:c.2T>C	NP_001075223.1:p.Met1Thr
NM_001081755.2:c.2T>C	NP_001075224.1:p.Met1Thr
NM_001278912.1:c.2T>C	NP_001265841.1:p.Met1Thr
NM_001278913.1:c.2T>C	NP_001265842.1:p.Met1Thr
NM_001278914.1:c.2T>C	NP_001265843.1:p.Met1Thr
NM_001278915.1:c.2T>C	NP_001265844.1:p.Met1Thr
NM_001278916.1:c.2T>C	NP_001265845.1:p.Met1Thr
NM_001278917.1:c.2T>C	NP_001265846.1:p.Met1Thr
NM_001278918.1:c.2T>C	NP_001265847.1:p.Met1Thr
NM_001278939.1:c.2T>C	NP_001265868.1:p.Met1Thr
XM_005250187.1:c.2T>C	XP_005250244.1:p.Met1Thr
XM_005250188.1:c.2T>C	XP_005250245.1:p.Met1Thr
XM_011515868.1:c.2T>C	XP_011514170.1:p.Met1Thr
XM_011515869.1:c.2T>C	XP_011514171.1:p.Met1Thr
XM_011515870.1:c.2T>C	XP_011514172.1:p.Met1Thr
XM_011515871.1:c.2T>C	XP_011514173.1:p.Met1Thr
XM_011515872.1:c.2T>C	XP_011514174.1:p.Met1Thr
XM_011515873.1:c.2T>C	XP_011514175.1:p.Met1Thr
XM_011515874.1:c.2T>C	XP_011514176.1:p.Met1Thr
XM_011515875.1:c.2T>C	XP_011514177.1:p.Met1Thr
XM_011515876.1:c.2T>C	XP_011514178.1:p.Met1Thr
XM_011515877.1:c.2T>C	XP_011514179.1:p.Met1Thr
XM_005250187.2:c.2T>C	XP_005250244.1:p.Met1Thr
XM_005250188.2:c.2T>C	XP_005250245.1:p.Met1Thr
XM_011515868.2:c.2T>C	XP_011514170.1:p.Met1Thr
XM_011515871.2:c.2T>C	XP_011514173.1:p.Met1Thr
XM_011515872.2:c.2T>C	XP_011514174.1:p.Met1Thr
XM_011515873.2:c.2T>C	XP_011514175.1:p.Met1Thr
XM_011515875.2:c.2T>C	XP_011514177.1:p.Met1Thr
XM_011515876.2:c.2T>C	XP_011514178.1:p.Met1Thr
XM_011515877.2:c.2T>C	XP_011514179.1:p.Met1Thr
XM_017011813.1:c.2T>C	XP_016867302.1:p.Met1Thr
XM_017011814.2:c.2T>C	XP_016867303.1:p.Met1Thr
NM_000501.4:c.2T>C MANE Select	NP_000492.2:p.Met1Thr
NM_001081752.3:c.2T>C	NP_001075221.1:p.Met1Thr
NM_001081753.3:c.2T>C	NP_001075222.1:p.Met1Thr
NM_001081754.3:c.2T>C	NP_001075223.1:p.Met1Thr
NM_001081755.3:c.2T>C	NP_001075224.1:p.Met1Thr
NM_001278912.2:c.2T>C	NP_001265841.1:p.Met1Thr
NM_001278913.2:c.2T>C	NP_001265842.1:p.Met1Thr
NM_001278914.2:c.2T>C	NP_001265843.1:p.Met1Thr
NM_001278915.2:c.2T>C	NP_001265844.1:p.Met1Thr
NM_001278916.2:c.2T>C	NP_001265845.1:p.Met1Thr
NM_001278917.2:c.2T>C	NP_001265846.1:p.Met1Thr
NM_001278918.2:c.2T>C	NP_001265847.1:p.Met1Thr
NM_001278939.2:c.2T>C	NP_001265868.1:p.Met1Thr