Canonical Allele Identifier: CA364738624

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75138470G>C , CM000668.2:g.75138470G>C	GRCh38
NC_000006.11:g.75848186G>C , CM000668.1:g.75848186G>C	GRCh37
NC_000006.10:g.75904906G>C	NCBI36
NG_042181.1:g.72438C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5208C>G MANE Select	NP_004361.3:p.Asp1736Glu
ENST00000322507.13:c.5208C>G MANE Select	ENSP00000325146.8:p.Asp1736Glu
NM_004370.5:c.5208C>G	NP_004361.3:p.Asp1736Glu
NM_080645.2:c.1716C>G	NP_542376.2:p.Asp572Glu
NM_080645.3:c.1716C>G	NP_542376.2:p.Asp572Glu
ENST00000322507.12:c.5208C>G	ENSP00000325146.8:p.Asp1736Glu
ENST00000345356.10:c.1716C>G	ENSP00000305147.9:p.Asp572Glu
ENST00000416123.6:c.5208C>G	ENSP00000412864.2:p.Asp1736Glu
ENST00000419671.1:c.1432C>G
ENST00000483888.6:c.5208C>G	ENSP00000421216.1:p.Asp1736Glu
ENST00000615798.4:c.1641C>G	ENSP00000483232.1:p.Asp547Glu
XM_011535434.1:c.5208C>G	XP_011533736.1:p.Asp1736Glu
XM_011535435.1:c.4935C>G	XP_011533737.1:p.Asp1645Glu
XM_011535436.1:c.1716C>G	XP_011533738.1:p.Asp572Glu
XM_011535436.2:c.1716C>G	XP_011533738.1:p.Asp572Glu
XM_017010252.2:c.5172C>G	XP_016865741.1:p.Asp1724Glu