Canonical Allele Identifier: CA394890279

Gene: ABCC6

Linked Data

• dbSNP Id: rs2048113703
• MyVariant Identifiers: chr16:g.16291942A>G (hg19) ; chr16:g.16198085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198085A>G , CM000678.2:g.16198085A>G	GRCh38
NC_000016.9:g.16291942A>G , CM000678.1:g.16291942A>G	GRCh37
NC_000016.8:g.16199443A>G	NCBI36
NG_007558.2:g.30387T>C
NG_007558.3:g.30533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1274T>C	ENSP00000507301.1:p.Leu425Pro
ENST00000622290.5:c.1274T>C	ENSP00000483331.2:p.Leu425Pro
ENST00000205557.12:c.1274T>C MANE Select	ENSP00000205557.7:p.Leu425Pro
ENST00000205557.11:c.1274T>C	ENSP00000205557.7:p.Leu425Pro
ENST00000456970.6:c.1274T>C	ENSP00000405002.2:p.Leu425Pro
ENST00000574094.5:n.1370T>C
ENST00000622290.4:c.1274T>C	ENSP00000483331.1:p.Leu425Pro
NM_001171.5:c.1274T>C	NP_001162.4:p.Leu425Pro
XM_011522479.1:c.1274T>C	XP_011520781.1:p.Leu425Pro
XM_011522480.1:c.932T>C	XP_011520782.1:p.Leu311Pro
XM_011522481.1:c.932T>C	XP_011520783.1:p.Leu311Pro
XM_011522482.1:c.1274T>C	XP_011520784.1:p.Leu425Pro
XR_932836.1:n.1509T>C
XR_932837.1:n.1510T>C
XR_932838.1:n.1510T>C
NM_001351800.1:c.932T>C	NP_001338729.1:p.Leu311Pro
NR_147784.1:n.1311T>C
XM_011522479.2:c.1274T>C	XP_011520781.1:p.Leu425Pro
XM_011522481.3:c.932T>C	XP_011520783.1:p.Leu311Pro
XM_011522482.3:c.1274T>C	XP_011520784.1:p.Leu425Pro
XM_017023212.1:c.1274T>C	XP_016878701.1:p.Leu425Pro
XM_017023214.1:c.1274T>C	XP_016878703.1:p.Leu425Pro
XM_024450261.1:c.1310T>C	XP_024306029.1:p.Leu437Pro
XR_932836.2:n.1455T>C
XR_932837.3:n.1455T>C
XR_932838.3:n.1455T>C
NM_001171.6:c.1274T>C MANE Select	NP_001162.5:p.Leu425Pro