Canonical Allele Identifier: CA3892461

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75113641C>A , CM000668.2:g.75113641C>A	GRCh38
NC_000006.11:g.75823357C>A , CM000668.1:g.75823357C>A	GRCh37
NC_000006.10:g.75880077C>A	NCBI36
NG_042181.1:g.97267G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.7801G>T MANE Select	NP_004361.3:p.Asp2601Tyr
ENST00000322507.13:c.7801G>T MANE Select	ENSP00000325146.8:p.Asp2601Tyr
NM_004370.5:c.7801G>T	NP_004361.3:p.Asp2601Tyr
NM_080645.2:c.4309G>T	NP_542376.2:p.Asp1437Tyr
NM_080645.3:c.4309G>T	NP_542376.2:p.Asp1437Tyr
ENST00000322507.12:c.7801G>T	ENSP00000325146.8:p.Asp2601Tyr
ENST00000345356.10:c.4309G>T	ENSP00000305147.9:p.Asp1437Tyr
ENST00000416123.6:c.7801G>T	ENSP00000412864.2:p.Asp2601Tyr
ENST00000425443.6:c.715G>T	ENSP00000399812.2:p.Asp239Tyr
ENST00000483888.6:c.7801G>T	ENSP00000421216.1:p.Asp2601Tyr
ENST00000493109.2:c.463G>T	ENSP00000423423.1:p.Asp155Tyr
ENST00000615798.4:c.4234G>T	ENSP00000483232.1:p.Asp1412Tyr
XM_011535434.1:c.7801G>T	XP_011533736.1:p.Asp2601Tyr
XM_011535435.1:c.7528G>T	XP_011533737.1:p.Asp2510Tyr
XM_011535436.1:c.4309G>T	XP_011533738.1:p.Asp1437Tyr
XM_011535436.2:c.4309G>T	XP_011533738.1:p.Asp1437Tyr
XM_017010252.2:c.7765G>T	XP_016865741.1:p.Asp2589Tyr