Canonical Allele Identifier: CA364764338

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 450540
• ClinVar RCV Id: RCV000519797 ; RCV003766952
• dbSNP Id: rs1554186583
• gnomAD v4: 6-75177867-G-A
• MyVariant Identifiers: chr6:g.75887583G>A (hg19) ; chr6:g.75177867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75177867G>A , CM000668.2:g.75177867G>A	GRCh38
NC_000006.11:g.75887583G>A , CM000668.1:g.75887583G>A	GRCh37
NC_000006.10:g.75944303G>A	NCBI36
NG_042181.1:g.33041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.2233C>T MANE Select	ENSP00000325146.8:p.Gln745Ter
ENST00000322507.12:c.2233C>T	ENSP00000325146.8:p.Gln745Ter
ENST00000345356.10:c.73+24853C>T	ENSP00000305147.9:n.73+24853C>T
ENST00000416123.6:c.2233C>T	ENSP00000412864.2:p.Gln745Ter
ENST00000483888.6:c.2233C>T	ENSP00000421216.1:p.Gln745Ter
ENST00000486533.1:n.1339C>T
ENST00000615798.4:c.-1335C>T	ENSP00000483232.1:n.-1335C>T
NM_004370.5:c.2233C>T	NP_004361.3:p.Gln745Ter
NM_080645.2:c.73+24853C>T	NP_542376.2:n.73+24853C>T
XM_011535434.1:c.2233C>T	XP_011533736.1:p.Gln745Ter
XM_011535435.1:c.2233C>T	XP_011533737.1:p.Gln745Ter
XM_011535436.1:c.73+24853C>T	XP_011533738.1:n.73+24853C>T
XM_011535436.2:c.73+24853C>T	XP_011533738.1:n.73+24853C>T
XM_017010252.2:c.2197C>T	XP_016865741.1:p.Gln733Ter
NM_004370.6:c.2233C>T MANE Select	NP_004361.3:p.Gln745Ter
NM_080645.3:c.73+24853C>T	NP_542376.2:n.73+24853C>T