Canonical Allele Identifier: CA364740006

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75138939G>T , CM000668.2:g.75138939G>T	GRCh38
NC_000006.11:g.75848655G>T , CM000668.1:g.75848655G>T	GRCh37
NC_000006.10:g.75905375G>T	NCBI36
NG_042181.1:g.71969C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4980C>A MANE Select	NP_004361.3:p.Asn1660Lys
ENST00000322507.13:c.4980C>A MANE Select	ENSP00000325146.8:p.Asn1660Lys
NM_004370.5:c.4980C>A	NP_004361.3:p.Asn1660Lys
NM_080645.2:c.1488C>A	NP_542376.2:p.Asn496Lys
NM_080645.3:c.1488C>A	NP_542376.2:p.Asn496Lys
ENST00000322507.12:c.4980C>A	ENSP00000325146.8:p.Asn1660Lys
ENST00000345356.10:c.1488C>A	ENSP00000305147.9:p.Asn496Lys
ENST00000416123.6:c.4980C>A	ENSP00000412864.2:p.Asn1660Lys
ENST00000419671.1:c.1204C>A
ENST00000483888.6:c.4980C>A	ENSP00000421216.1:p.Asn1660Lys
ENST00000615798.4:c.1413C>A	ENSP00000483232.1:p.Asn471Lys
XM_011535434.1:c.4980C>A	XP_011533736.1:p.Asn1660Lys
XM_011535435.1:c.4707C>A	XP_011533737.1:p.Asn1569Lys
XM_011535436.1:c.1488C>A	XP_011533738.1:p.Asn496Lys
XM_011535436.2:c.1488C>A	XP_011533738.1:p.Asn496Lys
XM_017010252.2:c.4944C>A	XP_016865741.1:p.Asn1648Lys