Canonical Allele Identifier: CA3892432

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 259348
• ClinVar RCV Id: RCV000251433 ; RCV000541900 ; RCV001764233 ; RCV002252066
• dbSNP Id: rs200408101
• ExAC: 6:75822972 A / G
• gnomAD v2: 6-75822972-A-G
• gnomAD v3: 6-75113256-A-G
• gnomAD v4: 6-75113256-A-G
• MyVariant Identifiers: chr6:g.75822972A>G (hg19) ; chr6:g.75113256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75113256A>G , CM000668.2:g.75113256A>G	GRCh38
NC_000006.11:g.75822972A>G , CM000668.1:g.75822972A>G	GRCh37
NC_000006.10:g.75879692A>G	NCBI36
NG_042181.1:g.97652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.7898T>C MANE Select	ENSP00000325146.8:p.Val2633Ala
ENST00000322507.12:c.7898T>C	ENSP00000325146.8:p.Val2633Ala
ENST00000345356.10:c.4406T>C	ENSP00000305147.9:p.Val1469Ala
ENST00000416123.6:c.7898T>C	ENSP00000412864.2:p.Val2633Ala
ENST00000425443.6:c.812T>C	ENSP00000399812.2:p.Val271Ala
ENST00000483888.6:c.7898T>C	ENSP00000421216.1:p.Val2633Ala
ENST00000493109.2:c.560T>C	ENSP00000423423.1:p.Val187Ala
ENST00000615798.4:c.4331T>C	ENSP00000483232.1:p.Val1444Ala
NM_004370.5:c.7898T>C	NP_004361.3:p.Val2633Ala
NM_080645.2:c.4406T>C	NP_542376.2:p.Val1469Ala
XM_011535434.1:c.7898T>C	XP_011533736.1:p.Val2633Ala
XM_011535435.1:c.7625T>C	XP_011533737.1:p.Val2542Ala
XM_011535436.1:c.4406T>C	XP_011533738.1:p.Val1469Ala
XM_011535436.2:c.4406T>C	XP_011533738.1:p.Val1469Ala
XM_017010252.2:c.7862T>C	XP_016865741.1:p.Val2621Ala
NM_004370.6:c.7898T>C MANE Select	NP_004361.3:p.Val2633Ala
NM_080645.3:c.4406T>C	NP_542376.2:p.Val1469Ala