Canonical Allele Identifier: CA3892611

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 475893
• ClinVar RCV Id: RCV000534733 ; RCV001509277
• dbSNP Id: rs141593495
• ExAC: 6:75828890 G / A
• gnomAD v2: 6-75828890-G-A
• gnomAD v3: 6-75119174-G-A
• gnomAD v4: 6-75119174-G-A
• COSMIC: COSM310215
• MyVariant Identifiers: chr6:g.75828890G>A (hg19) ; chr6:g.75119174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75119174G>A , CM000668.2:g.75119174G>A	GRCh38
NC_000006.11:g.75828890G>A , CM000668.1:g.75828890G>A	GRCh37
NC_000006.10:g.75885610G>A	NCBI36
NG_042181.1:g.91734C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322507.13:c.7223C>T MANE Select	ENSP00000325146.8:p.Thr2408Met
ENST00000322507.12:c.7223C>T	ENSP00000325146.8:p.Thr2408Met
ENST00000345356.10:c.3731C>T	ENSP00000305147.9:p.Thr1244Met
ENST00000416123.6:c.7223C>T	ENSP00000412864.2:p.Thr2408Met
ENST00000425443.6:c.137C>T	ENSP00000399812.2:p.Thr46Met
ENST00000483888.6:c.7223C>T	ENSP00000421216.1:p.Thr2408Met
ENST00000615798.4:c.3656C>T	ENSP00000483232.1:p.Thr1219Met
NM_004370.5:c.7223C>T	NP_004361.3:p.Thr2408Met
NM_080645.2:c.3731C>T	NP_542376.2:p.Thr1244Met
XM_011535434.1:c.7223C>T	XP_011533736.1:p.Thr2408Met
XM_011535435.1:c.6950C>T	XP_011533737.1:p.Thr2317Met
XM_011535436.1:c.3731C>T	XP_011533738.1:p.Thr1244Met
XM_011535436.2:c.3731C>T	XP_011533738.1:p.Thr1244Met
XM_017010252.2:c.7187C>T	XP_016865741.1:p.Thr2396Met
NM_004370.6:c.7223C>T MANE Select	NP_004361.3:p.Thr2408Met
NM_080645.3:c.3731C>T	NP_542376.2:p.Thr1244Met