Canonical Allele Identifier: CA364766180

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75180995G>A , CM000668.2:g.75180995G>A	GRCh38
NC_000006.11:g.75890711G>A , CM000668.1:g.75890711G>A	GRCh37
NC_000006.10:g.75947431G>A	NCBI36
NG_042181.1:g.29913C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.2108C>T MANE Select	NP_004361.3:p.Ala703Val
ENST00000322507.13:c.2108C>T MANE Select	ENSP00000325146.8:p.Ala703Val
NM_004370.5:c.2108C>T	NP_004361.3:p.Ala703Val
NM_080645.2:c.73+21725C>T	NP_542376.2:n.73+21725C>T
NM_080645.3:c.73+21725C>T	NP_542376.2:n.73+21725C>T
ENST00000322507.12:c.2108C>T	ENSP00000325146.8:p.Ala703Val
ENST00000345356.10:c.73+21725C>T	ENSP00000305147.9:n.73+21725C>T
ENST00000416123.6:c.2108C>T	ENSP00000412864.2:p.Ala703Val
ENST00000483888.6:c.2108C>T	ENSP00000421216.1:p.Ala703Val
ENST00000486533.1:n.1214C>T
ENST00000615798.4:c.-1460C>T	ENSP00000483232.1:n.-1460C>T
XM_011535434.1:c.2108C>T	XP_011533736.1:p.Ala703Val
XM_011535435.1:c.2108C>T	XP_011533737.1:p.Ala703Val
XM_011535436.1:c.73+21725C>T	XP_011533738.1:n.73+21725C>T
XM_011535436.2:c.73+21725C>T	XP_011533738.1:n.73+21725C>T
XM_017010252.2:c.2072C>T	XP_016865741.1:p.Ala691Val