Canonical Allele Identifier: CA364735216

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75090250T>C , CM000668.2:g.75090250T>C	GRCh38
NC_000006.11:g.75799966T>C , CM000668.1:g.75799966T>C	GRCh37
NC_000006.10:g.75856686T>C	NCBI36
NG_042181.1:g.120658A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8801A>G MANE Select	NP_004361.3:p.Tyr2934Cys
ENST00000322507.13:c.8801A>G MANE Select	ENSP00000325146.8:p.Tyr2934Cys
NM_004370.5:c.8801A>G	NP_004361.3:p.Tyr2934Cys
NM_080645.2:c.5309A>G	NP_542376.2:p.Tyr1770Cys
NM_080645.3:c.5309A>G	NP_542376.2:p.Tyr1770Cys
ENST00000322507.12:c.8801A>G	ENSP00000325146.8:p.Tyr2934Cys
ENST00000345356.10:c.5309A>G	ENSP00000305147.9:p.Tyr1770Cys
ENST00000416123.6:c.8573A>G	ENSP00000412864.2:p.Tyr2858Cys
ENST00000425443.6:c.1715A>G	ENSP00000399812.2:p.Tyr572Cys
ENST00000483888.6:c.8789A>G	ENSP00000421216.1:p.Tyr2930Cys
ENST00000511023.1:n.416A>G
ENST00000615798.4:c.5234A>G	ENSP00000483232.1:p.Tyr1745Cys
ENST00000680981.1:n.210A>G
XM_011535434.1:c.8801A>G	XP_011533736.1:p.Tyr2934Cys
XM_011535435.1:c.8528A>G	XP_011533737.1:p.Tyr2843Cys
XM_011535436.1:c.5309A>G	XP_011533738.1:p.Tyr1770Cys
XM_011535436.2:c.5309A>G	XP_011533738.1:p.Tyr1770Cys
XM_017010252.2:c.8765A>G	XP_016865741.1:p.Tyr2922Cys