Canonical Allele Identifier: CA3892058

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75089127G>A , CM000668.2:g.75089127G>A	GRCh38
NC_000006.11:g.75798843G>A , CM000668.1:g.75798843G>A	GRCh37
NC_000006.10:g.75855563G>A	NCBI36
NG_042181.1:g.121781C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8989C>T MANE Select	NP_004361.3:p.Arg2997Trp
ENST00000322507.13:c.8989C>T MANE Select	ENSP00000325146.8:p.Arg2997Trp
NM_004370.5:c.8989C>T	NP_004361.3:p.Arg2997Trp
NM_080645.2:c.5497C>T	NP_542376.2:p.Arg1833Trp
NM_080645.3:c.5497C>T	NP_542376.2:p.Arg1833Trp
ENST00000322507.12:c.8989C>T	ENSP00000325146.8:p.Arg2997Trp
ENST00000345356.10:c.5497C>T	ENSP00000305147.9:p.Arg1833Trp
ENST00000416123.6:c.8761C>T	ENSP00000412864.2:p.Arg2921Trp
ENST00000425443.6:c.1903C>T	ENSP00000399812.2:p.Arg635Trp
ENST00000483888.6:c.8977C>T	ENSP00000421216.1:p.Arg2993Trp
ENST00000615798.4:c.5422C>T	ENSP00000483232.1:p.Arg1808Trp
ENST00000680981.1:n.398C>T
XM_011535434.1:c.8989C>T	XP_011533736.1:p.Arg2997Trp
XM_011535435.1:c.8716C>T	XP_011533737.1:p.Arg2906Trp
XM_011535436.1:c.5497C>T	XP_011533738.1:p.Arg1833Trp
XM_011535436.2:c.5497C>T	XP_011533738.1:p.Arg1833Trp
XM_017010252.2:c.8953C>T	XP_016865741.1:p.Arg2985Trp