Canonical Allele Identifier: CA3892989

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 475878
• ClinVar RCV Id: RCV000536812 ; RCV001551411
• dbSNP Id: rs191233787
• ExAC: 6:75841754 G / T
• gnomAD v2: 6-75841754-G-T
• gnomAD v3: 6-75132038-G-T
• gnomAD v4: 6-75132038-G-T
• MyVariant Identifiers: chr6:g.75841754G>T (hg19) ; chr6:g.75132038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75132038G>T , CM000668.2:g.75132038G>T	GRCh38
NC_000006.11:g.75841754G>T , CM000668.1:g.75841754G>T	GRCh37
NC_000006.10:g.75898474G>T	NCBI36
NG_042181.1:g.78870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.5839C>A MANE Select	ENSP00000325146.8:p.Pro1947Thr
ENST00000322507.12:c.5839C>A	ENSP00000325146.8:p.Pro1947Thr
ENST00000345356.10:c.2347C>A	ENSP00000305147.9:p.Pro783Thr
ENST00000416123.6:c.5839C>A	ENSP00000412864.2:p.Pro1947Thr
ENST00000483888.6:c.5839C>A	ENSP00000421216.1:p.Pro1947Thr
ENST00000615798.4:c.2272C>A	ENSP00000483232.1:p.Pro758Thr
NM_004370.5:c.5839C>A	NP_004361.3:p.Pro1947Thr
NM_080645.2:c.2347C>A	NP_542376.2:p.Pro783Thr
XM_011535434.1:c.5839C>A	XP_011533736.1:p.Pro1947Thr
XM_011535435.1:c.5566C>A	XP_011533737.1:p.Pro1856Thr
XM_011535436.1:c.2347C>A	XP_011533738.1:p.Pro783Thr
XM_011535436.2:c.2347C>A	XP_011533738.1:p.Pro783Thr
XM_017010252.2:c.5803C>A	XP_016865741.1:p.Pro1935Thr
NM_004370.6:c.5839C>A MANE Select	NP_004361.3:p.Pro1947Thr
NM_080645.3:c.2347C>A	NP_542376.2:p.Pro783Thr