Canonical Allele Identifier: CA3892555

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 393184
• ClinVar RCV Id: RCV000444377 ; RCV000652906
• dbSNP Id: rs372985511
• ExAC: 6:75827140 C / T
• gnomAD v2: 6-75827140-C-T
• gnomAD v3: 6-75117424-C-T
• gnomAD v4: 6-75117424-C-T
• MyVariant Identifiers: chr6:g.75827140C>T (hg19) ; chr6:g.75117424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75117424C>T , CM000668.2:g.75117424C>T	GRCh38
NC_000006.11:g.75827140C>T , CM000668.1:g.75827140C>T	GRCh37
NC_000006.10:g.75883860C>T	NCBI36
NG_042181.1:g.93484G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.7477G>A MANE Select	ENSP00000325146.8:p.Glu2493Lys
ENST00000322507.12:c.7477G>A	ENSP00000325146.8:p.Glu2493Lys
ENST00000345356.10:c.3985G>A	ENSP00000305147.9:p.Glu1329Lys
ENST00000416123.6:c.7477G>A	ENSP00000412864.2:p.Glu2493Lys
ENST00000425443.6:c.391G>A	ENSP00000399812.2:p.Glu131Lys
ENST00000483888.6:c.7477G>A	ENSP00000421216.1:p.Glu2493Lys
ENST00000493109.2:c.139G>A	ENSP00000423423.1:p.Glu47Lys
ENST00000615798.4:c.3910G>A	ENSP00000483232.1:p.Glu1304Lys
NM_004370.5:c.7477G>A	NP_004361.3:p.Glu2493Lys
NM_080645.2:c.3985G>A	NP_542376.2:p.Glu1329Lys
XM_011535434.1:c.7477G>A	XP_011533736.1:p.Glu2493Lys
XM_011535435.1:c.7204G>A	XP_011533737.1:p.Glu2402Lys
XM_011535436.1:c.3985G>A	XP_011533738.1:p.Glu1329Lys
XM_011535436.2:c.3985G>A	XP_011533738.1:p.Glu1329Lys
XM_017010252.2:c.7441G>A	XP_016865741.1:p.Glu2481Lys
NM_004370.6:c.7477G>A MANE Select	NP_004361.3:p.Glu2493Lys
NM_080645.3:c.3985G>A	NP_542376.2:p.Glu1329Lys